A case of 17-beta-hydroxysteroid dehydrogenase deficiency type 3 in adult endocrinologist practice

17β-Hydroxysteroid dehydrogenase 3 deficiency (17HSD3) is a rare autosomal recessive cause of 46, XY disorders of sex development resulting from HSD17B3 gene mutations, in which conversion of androstenedione to testosterone is impared. The clinical signs of 17HSD3 deficiency depend on the residual activity of the enzyme. The diagnosis of 17HSD3 deficiency is based on reduced testosterone/androstenedione ratio (T/AD < 0.8). Patients are usually assigned at birth and raise as female. If the diagnosis is made before puberty, gonadectomy is recommended, taking into account the risk of masculinization during the puberty and estrogen therapy initiation in this period. If the diagnosis of 17HSD3 deficiency is established during puberty, when virilization manifests, the therapeutic strategy is based on the results of comprehensive psychological testing and gender identity of a patient. In patients with more pronounced masculinization or diagnosis established shortly after birth, who are assigned at birth and raise as male, testosterone therapy is used to achieve a male phenotype. The 17HSD3 deficiency and virilization often result in a change of gender identity during puberty. The article presents a clinical case of 17-βhydroxysteroid dehydrogenase type 3 deficiency with late diagnosis due to parental will. The diagnostic approaches and management of the disease are also described

Russian clinical practice guidelines «congenital adrenal hyperplasia»

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases characterized by a defect in one of the enzymes or transport proteins involved in the cortisol synthesis in the adrenal cortex. The most common form of CAH, which occurs in more than 90% of cases, is a 21-hydroxylase enzyme deficiency. The latter is subdivided into nonclassical and classic (salt-losing and virilizing) forms. The prevalence of classic forms of 21-hydroxylase deficiency ranges from 1: 14,000 to 1:18,000 live births worldwide. According to the data of neonatal screening in the Russian Federation, the prevalence of the disease in some regions ranges from 1: 5000 to 1: 12000, in the country as a whole - 1: 9638 live newborns. The non-classical form of CAH occurs more often - from 1: 500 to 1: 1000 among the general population. In second place is the hypertensive form of CAH - a deficiency of 11β-hydroxylase, which, according to the literature, occurs in about 1 per 100,000 newborns. These clinical guidelines were compiled by a professional community of narrow specialists, approved by the expert council of the Ministry of Health of the Russian Federation, and updated the previous version published in 2016. The clinical guidelines are based on systematic reviews, meta-analyses and original articles, and scientific work on this issue in the Russian Federation and other countries. The purpose of this document is to provide clinicians with the most up-to-date, evidence-based guidelines for the CAH diagnosis and treatmen

Ginekomastiya

Гинекомастия — полиэтиологический синдром, проявляющийся увеличением (односторонним или двусторонним) в размерах грудных желез у мужчин. Причины изменения баланса мужских и женских половых гормонов крайне разнообразны и положены в основу предлагаемой нами классификации синдрома гинекомастии

A Late Onset of Adrenocortical Cancer Assosiated with Beckwith-Wiedemann Syndrome

Beckwith-Wiedemann syndrome (BWS) is a genetic overgrowth disorder involving a predisposition to tumor development. The common features of Beckwith-Wiedemann syndrome include omphalocele, macroglos- sia and macrosomia. The increased risk for neoplasia is concentrated in the first eight years of life. However, this case presents a late onset of adrenocortical cancer assosiated with Beckwith-Wiedemann syndrome

Testosterone undecanoate effects on cardiovascular risk factors in men with metabolic syndrome

Aim. To study testosterone undecanoate effects on some modifiable cardiovascular risk factors in men with metabolic syndrome (MS).Material and methods. Androgen status screening (anthropometry, total and free testosterone level measurement) was performed in 35-75-year-old men with cardiovascular disease (CVD). In 50 MS patients, a double-blind, randomized, placebo-controlled trial of testosterone undecanoate was performed, focusing on hypogonadism clinics, erectile function (EF), quality of life (QoL), lipid profile (LP), inflammatory markers: C-reactive protein (CRP), tumor necrosis factor-alpha (TNF-alpha), and interleukin-6 (IL-6).Results. In men with CVD, clinical and laboratory androgen deficiency was observed in 67,8%, more often in those with visceral obesity. By Week 30 of testosterone treatment, androgen deficiency became less manifested clinically; EF, QoL, and LP also improved. Baseline levels of inflammatory markers pointed to elevated CVD risk. Testosterone undecanoate therapy was associated with significant, 2-fold reduction in CRP concentration, and 1.2-fold decrease in TNF-alpha and IL-6 levels.Conclusion. In men with CVD, hypogonadism was widely prevalent; testosterone level was age-independent in combined pathology. Testosterone level normalization facilitated improvements in LP and QoL. Testosterone undecanoate therapy was safe and well-tolerated

Testosterone and insulin resistance in the metabolic syndrome and T2DM in men

Obesity, type 2 diabetes mellitus and the metabolic syndrome are major risk factors for cardiovascular disease. Studies have demonstrated an association between low levels of testosterone and the above insulin-resistant states, with a prevalence of hypogonadism of up to 50% in men with type 2 diabetes mellitus. Low levels of testosterone are also associated with an increased risk of all-cause and cardiovascular mortality. Hypogonadism and obesity share a bidirectional relationship as a result of the complex interplay between adipocytokines, proinflammatory cytokines and hypothalamic hormones that control the pituitary–testicular axis. Interventional studies have shown beneficial effects of testosterone on components of the metabolic syndrome, type 2 diabetes mellitus and other cardiovascular risk factors, including insulin resistance and high levels of cholesterol. Biochemical evidence indicates that testosterone is involved in promoting glucose utilization by stimulating glucose uptake, glycolysis and mitochondrial oxidative phosphorylation. Testosterone is also involved in lipid homeostasis in major insulin-responsive target tissues, such as liver, adipose tissue and skeletal muscle